First report of novel mutation (c.790del) on SQSTM1 gene on a family with childhood onset of progressive cerebellar ataxia with vertical gaze palsy

por Jalali, Hossein, Khoshaeen, Atefeh, Mahdavi, Mohammad Reza, Mahdavi, Mahan
Publicado 2022

Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome

por Kariminejad, Ariana, Almadani, Navid, Khoshaeen, Atefeh, Olsson, Bjorn, Moslemi, Ali-Reza, Tajsharghi, Homa
Publicado 2016